DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Tyrosinemia, Type I ×

Variant: rs970505762 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs970505762

FAH

CUI:	C0268490
Disease:	Tyrosinemia, Type I

Tyrosinemia, Type I

0.700

GeneticVariation

CLINVAR

[Mutation analysis of FAH gene in patients with tyrosinemia type 1].

23927806

2013

dbSNP:

rs970505762

FAH

CUI:	C0268490
Disease:	Tyrosinemia, Type I

Tyrosinemia, Type I

0.700

GeneticVariation

CLINVAR

[Analysis of clinical data and genetic mutations in three Chinese patients with tyrosinemia type I].

23225041

2012

dbSNP:

rs970505762

FAH

CUI:	C0268490
Disease:	Tyrosinemia, Type I

Tyrosinemia, Type I

0.700

GeneticVariation

CLINVAR

Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin.

21764616

2011

dbSNP:

rs970505762

FAH

CUI:	C0268490
Disease:	Tyrosinemia, Type I

Tyrosinemia, Type I

0.700

CausalMutation

CLINVAR